ClinVar Miner

List of variants studied for Nance-Horan syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001291867.2(NHS):c.115C>T (p.Gln39Ter) rs104894881
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001291867.2(NHS):c.2450dup (p.Ser818fs) rs786205255
NM_001291867.2(NHS):c.3522del (p.Leu1175fs) rs786205256
NM_001291867.2(NHS):c.718+1dup rs1556030707
NM_001291867.2(NHS):c.852+1del rs786205677
NM_001291867.2(NHS):c.916-2A>G rs786205257

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